CCL

Összesen 2 találat.
#/oldal:
Részletezés:
Rendezés:

1.

001-es BibID:BIBFORM059960
Első szerző:Bessenyei Beáta (molekuláris biológus)
Cím:Clinical and genetic characteristics of craniosynostosis in Hungary / Beáta Bessenyei, Andrea Nagy, Katalin Szakszon, Attila Mokánszki, Erzsébet Balogh, Anikó Ujfalusi, Mariann Tihanyi, László Novák, László Bognár, Éva Oláh
Dátum:2015
ISSN:1552-4825
Megjegyzések:Craniosynostosis, the premature closure of cranial sutures, is a common craniofacial disorder with heterogeneous etiology and appearance. The purpose of this study was to investigate the clinical and molecular characteristics of craniosynostoses in Hungary, including the classification of patients and the genetic analysis of the syndromic forms. Between 2006 and 2012, 200 patients with craniosynostosis were studied. Classification was based on the suture(s) involved and the associated clinical features. In syndromic cases, genetic analyses, including mutational screening of the hotspot regions of the FGFR1, FGFR2, FGFR3, andTWIST1 genes, karyotyping and FISH study ofTWIST1, were performed. The majority (88%) of all patients with craniosynostosiswere nonsyndromic. The sagittal suturewasmost commonly involved, followed by the coronal, metopic, and lambdoid sutures. Male, twin gestation, and very low birth weight were risk factors for craniosynostosis. Syndromic craniosynostosis was detected in 24 patients. In 17 of these patients, Apert, Crouzon, Pfeiffer,Muenke, or Saethre-Chotzen syndromes wereidentified. In one patient, multiple-suture craniosynostosis was associated with achondroplasia. Clinical signs were not typical for any particular syndrome in six patients. Genetic abnormalities were detected in 18 syndromic patients and in 8 relatives. In addition to 10 different, known mutations in FGFR1,FGFR2 or FGFR3, one novel missense mutation, c.528C>G(p.Ser176Arg), was detected in the TWIST1 gene of a patient with Saethre- Chotzen syndrome. Our results indicate that detailed clinical assessment is of paramount importance in the classification of patients and allows indication of targeted molecular testing with the highest possible diagnostic yield.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
craniosynostosis
risk factors
fibroblast growth factor receptor
novel mutation
dysmorphism
limb defects
Megjelenés:American Journal Of Medical Genetics Part A 167A : 12 (2015), p. 2985-2991. -
További szerzők:Nagy Andrea (1958-) (csecsemő és gyermekgyógyász, neonatológus) Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Mokánszki Attila (1983-) (molekuláris biológus Ph.D hallgató) Balogh Erzsébet (1949-) (biológus, citogenetikus) Ujfalusi Anikó (1968-) (gyermekorvos, laboratóriumi szakorvos) Tihanyi Mariann Novák László (1964-) (idegsebész) Bognár László (1958-) (idegsebész, gyermekidegsebész) Oláh Éva (1943-2019) (gyermekgyógyász, klinikai genetikus)
Internet cím:DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:

2.

001-es BibID:BIBFORM090422
035-os BibID:(WoS)000585924300009 (Scopus)85095417952
Első szerző:Parry, David A.
Cím:PRIM1 deficiency causes a distinctive primordial dwarfism syndrome / Parry David A., Tamayo-Orrego Lukas, Carroll Paula, Marsh Joseph A., Greene Philip, Murina Olga, Uggenti Carolina, Leitch Andrea, Káposzta Rita, Merő Gabriella, Nagy Andrea, Orlik Brigitta, Kovács-Pászthy Balázs, Quigley Alan J., Riszter Magdolna, Rankin Julia, Reijns Martin A. M., Szakszon Katalin, Jackson Andrew P.
Dátum:2020
ISSN:0890-9369 1549-5477
Megjegyzések:DNA replication is fundamental for cell proliferation in all organisms. Nonetheless, components of the replisome have been implicated in human disease, and here we report PRIM1 encoding the catalytic subunit of DNA primase as a novel disease gene. Using a variant classification agnostic approach, biallelic mutations in PRIM1 were identified in five individuals. PRIM1 protein levels were markedly reduced in patient cells, accompanied by replication fork asymmetry, increased interorigin distances, replication stress, and prolonged S-phase duration. Consequently, cell proliferation was markedly impaired, explaining the patients' extreme growth failure. Notably, phenotypic features distinct from those previously reported with DNA polymerase genes were evident, highlighting differing developmental requirements for this core replisome component that warrant future investigation.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
DNA replication
genome stability
growth disorders
human genetics
rare disease
Megjelenés:Genes & Development. - 34 : 21-22 (2020), p. 1520-1533. -
További szerzők:Tamayo-Orrego, Lukas Carroll, Paula Marsh, Joseph A. Greene, Philip Murina, Olga Uggenti, Carolina Leitch, Andrea Káposzta Rita (1968-) (csecsemő- és gyermekgyógyász) Merő Gabriella (1967-) (gyermekneurológus) Nagy Andrea (1958-) (csecsemő és gyermekgyógyász, neonatológus) Orlik Brigitta Kovács-Pászthy Balázs Quigley, Alan J. Riszter Magdolna (1973-) (csecsemő és gyermekgyógyász, neonatológus) Rankin, Julia Reijns, Martin A. M. Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Jackson, Andrew P.
Internet cím:Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Rekordok letöltése1